Canonical Allele Identifier: CA388786227
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118646C>A , CM000675.2:g.113118646C>A GRCh38
NC_000013.10:g.113772960C>A , CM000675.1:g.113772960C>A GRCh37
NC_000013.9:g.112820961C>A NCBI36
NG_009258.1:g.848C>A , LRG_548:g.848C>A
NG_009262.1:g.17856C>A , LRG_554:g.17856C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.973C>A MANE Select ENSP00000329546.4:p.Leu325Met
ENST00000346342.7:c.973C>A ENSP00000329546.3:p.Leu325Met
ENST00000375581.3:c.1039C>A ENSP00000364731.3:p.Leu347Met
ENST00000541084.5:c.787C>A ENSP00000442051.2:p.Leu263Met
NM_000131.4:c.1039C>A , LRG_554t1:c.1039C>A NP_000122.1:p.Leu347Met
NM_001267554.1:c.787C>A NP_001254483.1:p.Leu263Met
NM_019616.3:c.973C>A , LRG_554t2:c.973C>A NP_062562.1:p.Leu325Met
NR_051961.1:n.1060C>A
XM_006719963.2:c.832C>A XP_006720026.1:p.Leu278Met
XM_011537474.1:c.1081C>A XP_011535776.1:p.Leu361Met
XM_011537475.1:c.895C>A XP_011535777.1:p.Leu299Met
XM_011537476.1:c.733C>A XP_011535778.1:p.Leu245Met
XM_011537477.1:c.1042C>A XP_011535779.1:p.Leu348Met
XM_006719963.3:c.877C>A XP_006720026.2:p.Leu293Met
XM_011537474.2:c.1126C>A XP_011535776.2:p.Leu376Met
XM_011537475.2:c.940C>A XP_011535777.2:p.Leu314Met
XM_011537476.2:c.733C>A XP_011535778.1:p.Leu245Met
NM_019616.4:c.973C>A MANE Select NP_062562.1:p.Leu325Met
NR_051961.2:n.1057C>A
NM_001267554.2:c.787C>A NP_001254483.1:p.Leu263Met